ClinVar Miner

Variants in gene GJB2

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
119 91 141 59 41 1 322

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deafness, autosomal recessive 1A 64 65 86 17 18 0 211
not provided 56 19 39 22 10 0 125
Deafness, autosomal dominant 3a 23 19 29 20 21 0 105
not specified 23 6 37 27 15 0 95
Hystrix-like ichthyosis with deafness 1 0 28 15 28 0 72
Rare genetic deafness 42 20 0 0 0 0 62
Mutilating keratoderma 2 0 8 20 11 0 41
Keratitis ichthyosis and deafness syndrome 0 0 8 21 11 0 40
Hearing loss 30 2 4 1 0 0 37
Hearing impairment 25 1 0 0 0 0 25
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 15 2 3 0 0 0 20
Deafness, autosomal recessive 1A; Deafness, autosomal recessive 1b 14 2 0 0 0 0 16
Nonsyndromic hearing loss and deafness 7 2 7 0 0 0 16
Keratitis-ichthyosis-deafness syndrome, autosomal dominant 5 1 0 0 0 0 6
Palmoplantar keratoderma-deafness syndrome 5 0 0 0 0 0 5
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 4 0 0 0 0 0 4
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 1 0 1 0 1 0 3
Inborn genetic diseases 3 0 0 0 0 0 3
Nonsyndromic Hearing Loss, Dominant 0 0 1 1 1 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 1 1 3
Deafness 1 0 0 0 0 1 2
GJB2-Related Disorders 1 1 0 0 0 0 2
Knuckle pads, deafness AND leukonychia syndrome 2 0 0 0 0 0 2
Nonsyndromic Deafness 0 0 2 0 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 2
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Congenital omphalocele; Hearing impairment; Horseshoe kidney; Short palpebral fissure 1 0 0 0 0 0 1
Deafness, autosomal recessive 12 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 1 0 0 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
IFAP syndrome with or without BRESHECK syndrome 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 0 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 29 54 45 1 0 0 129
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 42 20 20 21 13 0 116
Illumina Clinical Services Laboratory,Illumina 9 4 37 31 29 0 76
Integrated Genetics/Laboratory Corporation of America 35 5 15 8 9 0 72
Athena Diagnostics Inc 30 2 19 3 5 0 59
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 29 3 13 3 10 0 58
Invitae 30 7 0 16 3 0 56
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 6 5 6 9 0 55
GeneDx 32 9 4 4 5 0 54
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 24 4 13 2 5 0 48
OMIM 42 0 0 0 0 0 42
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 30 2 4 1 0 0 37
Genetic Services Laboratory, University of Chicago 29 0 2 0 5 0 36
GeneReviews 28 0 0 0 1 0 28
Fulgent Genetics,Fulgent Genetics 15 2 3 0 0 0 20
ClinGen Hearing Loss Variant Curation Expert Panel 7 2 8 0 0 0 17
Baylor Genetics 14 2 0 0 0 0 16
Myriad Women's Health, Inc. 15 1 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 8 1 5 0 0 0 14
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 9 3 0 2 0 0 13
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 10 1 0 0 0 0 11
PreventionGenetics,PreventionGenetics 0 1 0 2 7 0 10
Mendelics 3 0 1 0 4 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 2 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 1 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 0 0 1 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 2 0 1 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 4
Ambry Genetics 3 0 0 0 0 0 3
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 1 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 1 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1

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